Canonical Allele Identifier: CA399303271

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37881069C>A (hg19) ; chr17:g.39724816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724816C>A , CM000679.2:g.39724816C>A	GRCh38
NC_000017.10:g.37881069C>A , CM000679.1:g.37881069C>A	GRCh37
NC_000017.9:g.35134595C>A	NCBI36
NG_007503.1:g.41677C>A , LRG_724:g.41677C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2398C>A MANE Select	ENSP00000269571.4:p.Leu800Ile
ENST00000269571.9:c.2398C>A	ENSP00000269571.4:p.Leu800Ile
ENST00000406381.6:c.2308C>A	ENSP00000385185.2:p.Leu770Ile
ENST00000445658.6:c.1570C>A	ENSP00000404047.2:p.Leu524Ile
ENST00000541774.5:c.2353C>A	ENSP00000446466.1:p.Leu785Ile
ENST00000578373.5:c.*2188C>A	ENSP00000463427.1:n.*2188C>A
ENST00000580074.1:c.504C>A
ENST00000583038.5:n.3532C>A
ENST00000584450.5:c.2398C>A	ENSP00000463714.1:p.Leu800Ile
ENST00000584601.5:c.2308C>A	ENSP00000462438.1:p.Leu770Ile
NM_001005862.2:c.2308C>A , LRG_724t1:c.2308C>A	NP_001005862.1:p.Leu770Ile
NM_001289936.1:c.2353C>A , LRG_724t4:c.2353C>A	NP_001276865.1:p.Leu785Ile
NM_001289937.1:c.2398C>A	NP_001276866.1:p.Leu800Ile
NM_004448.3:c.2398C>A , LRG_724t2:c.2398C>A	NP_004439.2:p.Leu800Ile
NR_110535.1:n.2722C>A
XM_024450641.1:c.2536C>A	XP_024306409.1:p.Leu846Ile
XM_024450642.1:c.2491C>A	XP_024306410.1:p.Leu831Ile
XM_024450643.1:c.2446C>A	XP_024306411.1:p.Leu816Ile
NM_001005862.3:c.2308C>A	NP_001005862.1:p.Leu770Ile
NM_001289936.2:c.2353C>A	NP_001276865.1:p.Leu785Ile
NM_001289937.2:c.2398C>A	NP_001276866.1:p.Leu800Ile
NM_001382782.1:c.2308C>A	NP_001369711.1:p.Leu770Ile
NM_001382783.1:c.2308C>A	NP_001369712.1:p.Leu770Ile
NM_001382784.1:c.2515C>A	NP_001369713.1:p.Leu839Ile
NM_001382785.1:c.2500C>A	NP_001369714.1:p.Leu834Ile
NM_001382786.1:c.2479C>A	NP_001369715.1:p.Leu827Ile
NM_001382787.1:c.2473C>A	NP_001369716.1:p.Leu825Ile
NM_001382788.1:c.2428C>A	NP_001369717.1:p.Leu810Ile
NM_001382789.1:c.2419C>A	NP_001369718.1:p.Leu807Ile
NM_001382790.1:c.2395C>A	NP_001369719.1:p.Leu799Ile
NM_001382791.1:c.2389C>A	NP_001369720.1:p.Leu797Ile
NM_001382792.1:c.2362C>A	NP_001369721.1:p.Leu788Ile
NM_001382793.1:c.2356C>A	NP_001369722.1:p.Leu786Ile
NM_001382794.1:c.2356C>A	NP_001369723.1:p.Leu786Ile
NM_001382795.1:c.2350C>A	NP_001369724.1:p.Leu784Ile
NM_001382796.1:c.2398C>A	NP_001369725.1:p.Leu800Ile
NM_001382797.1:c.2299C>A	NP_001369726.1:p.Leu767Ile
NM_001382798.1:c.2398C>A	NP_001369727.1:p.Leu800Ile
NM_001382799.1:c.2218C>A	NP_001369728.1:p.Leu740Ile
NM_001382800.1:c.2308-233C>A	NP_001369729.1:n.2308-233C>A
NM_001382801.1:c.2350C>A	NP_001369730.1:p.Leu784Ile
NM_001382802.1:c.2140C>A	NP_001369731.1:p.Leu714Ile
NM_001382803.1:c.2356C>A	NP_001369732.1:p.Leu786Ile
NM_001382804.1:c.1570C>A	NP_001369733.1:p.Leu524Ile
NM_001382805.1:c.2208+1156C>A	NP_001369734.1:n.2208+1156C>A
NM_001382806.1:c.1360C>A	NP_001369735.1:p.Leu454Ile
NM_004448.4:c.2398C>A MANE Select	NP_004439.2:p.Leu800Ile
NR_110535.2:n.2636C>A